Canonical Allele Identifier: CA928437390

Gene: MBL2

Linked Data

• dbSNP Id: rs1249927022
• gnomAD v3: 10-52771351-GA-G
• gnomAD v4: 10-52771351-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.52771356del , CM000672.2:g.52771356del	GRCh38
NC_000010.10:g.54531116del , CM000672.1:g.54531116del	GRCh37
NC_000010.9:g.54201122del	NCBI36
NG_008196.1:g.5349del , LRG_154:g.5349del

Transcript Alleles

HGVS	Amino-acid change
ENST00000674931.1:c.187+97del MANE Select	ENSP00000502789.1:n.187+97del
ENST00000675947.1:c.187+97del	ENSP00000502615.1:n.187+97del
ENST00000373968.3:c.187+97del	ENSP00000363079.3:n.187+97del
NM_000242.2:c.187+97del , LRG_154t1:c.187+97del	NP_000233.1:n.187+97del
XM_006717861.2:c.187+97del	XP_006717924.1:n.187+97del
XM_011539816.1:c.187+97del	XP_011538118.1:n.187+97del
XM_006717861.4:c.187+97del	XP_006717924.1:n.187+97del
XM_011539816.3:c.187+97del	XP_011538118.1:n.187+97del
NM_000242.3:c.187+97del	NP_000233.1:n.187+97del
NM_001378373.1:c.187+97del MANE Select	NP_001365302.1:n.187+97del
NM_001378374.1:c.187+97del	NP_001365303.1:n.187+97del